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A novel mutation in NCF2 resulting in very-early-onset colitis and juvenile idiopathic arthritis in a patient with chronic granulomatous disease

BACKGROUND: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder caused by a defect in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. The disease primarily presents with recurrent infections, and patients may also present with inflammatory conditi...

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Bibliografische gegevens
Gepubliceerd in:Allergy Asthma Clin Immunol
Hoofdauteur: AlKhater, Suzan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2019
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6873422/
https://ncbi.nlm.nih.gov/pubmed/31832070
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13223-019-0386-6
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